Canonical Allele Identifier: CA174001574
Gene: NKX3-1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2207091
ClinVar RCV Id: RCV004071475
dbSNP Id: rs962693280
gnomAD v2: 8-23540330-G-A
gnomAD v4: 8-23682817-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23682817G>A , CM000670.2:g.23682817G>A GRCh38
NC_000008.10:g.23540330G>A , CM000670.1:g.23540330G>A GRCh37
NC_000008.9:g.23596275G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380871.5:c.73C>T MANE Select ENSP00000370253.4:p.Pro25Ser
ENST00000380871.4:c.73C>T ENSP00000370253.4:p.Pro25Ser
ENST00000523261.1:c.33+40C>T ENSP00000429729.1:n.33+40C>T
NM_001256339.1:c.33+40C>T NP_001243268.1:n.33+40C>T
NM_006167.3:c.73C>T NP_006158.2:p.Pro25Ser
NR_046072.1:n.18+87C>T
XR_001745842.1:n.1312+14067G>A
NM_006167.4:c.73C>T MANE Select NP_006158.2:p.Pro25Ser
NR_046072.2:n.35+87C>T